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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:skin carcinoma
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Accession:DOID:3451 term browser browse the term
Definition:A skin cancer that is located_in tissues of the skin and develops from epithelial cells. (DO)
Synonyms:exact_synonym: carcinoma of skin;   keratinocyte carcinoma;   non-melanoma skin carcinoma
 xref: EFO:0009259;   EFO:0009260;   EFO:0010176;   NCI:C4914
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi3bp ABI family member 3 binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:57,381,282...57,597,989
Ensembl chr11:57,381,422...57,598,120 		JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:70,620,310...70,648,417
Ensembl chr18:70,620,110...70,648,420 		JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:75,783,689...75,822,077
Ensembl chr 9:75,783,689...75,822,164 		JBrowse link
G Adam23 ADAM metallopeptidase domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:72,356,479...72,503,545
Ensembl chr 9:72,356,479...72,503,545 		JBrowse link
G Alcam activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:61,804,932...62,005,250
Ensembl chr11:61,805,049...62,006,876 		JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:106,369,750...106,373,395
Ensembl chr10:106,369,750...106,373,395 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:20,305,693...20,489,689
Ensembl chr20:20,306,712...20,489,686 		JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:14,595,939...14,609,501
Ensembl chr12:14,595,678...14,609,504 		JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:164,015,903...164,021,378 		JBrowse link
G Atf2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:79,125,814...79,202,896
Ensembl chr 3:79,126,705...79,202,745 		JBrowse link
G Atp5pb ATP synthase peripheral stalk-membrane subunit b ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:196,112,459...196,123,737
Ensembl chr 2:196,112,108...196,124,387 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26719535 PMID:25080371 RGD:9586038 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Basp1 brain abundant, membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:77,546,628...77,594,297
Ensembl chr 2:77,546,092...77,597,178 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:103,724,934...104,061,890
Ensembl chr 5:103,724,934...104,125,428 		JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732 		JBrowse link
G C1qtnf1 C1q and TNF related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:104,159,021...104,180,253
Ensembl chr10:104,158,886...104,180,251 		JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Ccdc152 coiled-coil domain containing 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:54,236,013...54,260,531
Ensembl chr 2:54,236,013...54,264,065 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition ClinVar PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:17,570,263...17,614,860 		JBrowse link
G Chchd7 coiled-coil-helix-coiled-coil-helix domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:21,754,719...21,759,274
Ensembl chr 5:21,754,719...21,759,274 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:54,562,437...54,588,842
Ensembl chr10:54,562,437...54,588,810 		JBrowse link
G Chga chromogranin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:127,460,895...127,472,238
Ensembl chr 6:127,460,854...127,472,237 		JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:31,496,094...31,512,077 		JBrowse link
G Coa3 cytochrome C oxidase assembly factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:86,720,454...86,721,435
Ensembl chr10:86,720,456...86,721,440 		JBrowse link
G Coa7 cytochrome c oxidase assembly factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:128,298,084...128,308,935
Ensembl chr 5:128,298,093...128,309,664 		JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:83,723,587...84,124,786
Ensembl chr 4:83,723,194...84,120,793 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr 3:153,764,718...153,807,973
Ensembl chr 6:6,894,292...6,896,635
Ensembl chr 3:6,894,292...6,896,635 		JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:66,160,942...66,200,806 		JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:50,431,478...50,481,013
Ensembl chr19:50,431,689...50,481,012 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Dclre1a DNA cross-link repair 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:265,575,087...265,594,987
Ensembl chr 1:265,575,087...265,593,899 		JBrowse link
G Dcp1b decapping mRNA 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:154,030,181...154,068,038
Ensembl chr 4:154,030,690...154,068,035 		JBrowse link
G Dhx15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:62,999,886...63,037,829
Ensembl chr14:62,999,877...63,037,828 		JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:115,396,308...115,410,594
Ensembl chr 6:115,396,308...115,410,594 		JBrowse link
G Dsc2 desmocollin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:11,725,466...11,757,591
Ensembl chr18:11,725,466...11,757,466 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:98,145,317...98,183,304
Ensembl chr13:98,145,893...98,183,304 		JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Elk3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:29,655,676...29,718,163
Ensembl chr 7:29,655,693...29,691,661 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481 		JBrowse link
G Fam234a family with sequence similarity 234, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:15,736,741...15,768,043
Ensembl chr10:15,736,742...15,749,835 		JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:104,531,196...104,770,148
Ensembl chr15:104,531,813...104,770,147 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:172,447,738...172,609,591 		JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:77,755,131...77,777,597
Ensembl chr13:77,757,629...77,777,534 		JBrowse link
G Fnbp1l formin binding protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:213,331,871...213,432,821
Ensembl chr 2:213,318,662...213,423,051 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:16,710,601...16,723,734
Ensembl chr12:16,710,601...16,723,734 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:7,233,524...7,273,290
Ensembl chr16:7,233,606...7,273,285 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gpx8 glutathione peroxidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:46,409,646...46,413,401
Ensembl chr 2:46,409,139...46,413,406 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:150,722,711...151,297,585
Ensembl chr 1:150,733,678...151,296,649 		JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:28,037,344...28,112,677
Ensembl chr12:28,037,853...28,112,677 		JBrowse link
G Hhip Hedgehog-interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr19:44,768,038...44,856,878
Ensembl chr19:44,767,536...44,862,795 		JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:35,688,927...35,781,634 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:81,405,021...81,447,814
Ensembl chr10:81,404,797...81,447,846 		JBrowse link
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:92,378,908...92,478,893
Ensembl chr11:92,378,908...92,478,867 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:47,024,064...47,142,391
Ensembl chr 9:47,087,471...47,135,968 		JBrowse link
G Irs4 insulin receptor substrate 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr  X:110,132,490...110,148,473
Ensembl chr  X:110,132,405...110,149,088 		JBrowse link
G Irx1 iroquois homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:33,123,122...33,128,951
Ensembl chr 1:33,123,122...33,128,951 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:114,973,151...115,013,285 		JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 PMID:36428691 NCBI chr10:85,679,068...85,683,792
Ensembl chr10:85,679,070...85,683,787 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:3,980,544...4,014,029 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:222,340,704...222,453,929 		JBrowse link
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:52,973,151...53,107,964
Ensembl chr 7:52,974,332...53,108,163 		JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:5,163,258...5,199,930
Ensembl chr10:5,163,242...5,199,930 		JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:61,778,971...61,800,960
Ensembl chr18:61,772,917...61,800,820 		JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:25,596,205...25,621,928
Ensembl chr16:25,596,211...25,622,107 		JBrowse link
G Lrig3 leucine-rich repeats and immunoglobulin-like domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:63,701,724...63,751,898
Ensembl chr 7:63,701,778...63,752,261 		JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:88,746,904...88,781,532
Ensembl chr 2:88,746,443...88,781,542 		JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:25,781,625...26,177,346
Ensembl chr 6:25,781,638...26,454,036 		JBrowse link
G Marcksl1 MARCKS-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:147,135,827...147,138,150
Ensembl chr 5:147,134,514...147,138,417 		JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr19:68,360,950...68,363,877
Ensembl chr19:68,360,950...68,363,877 		JBrowse link
G Mex3a mex-3 RNA binding family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:176,287,900...176,297,369
Ensembl chr 2:176,287,900...176,297,369 		JBrowse link
G Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:41,228,327...41,516,462
Ensembl chr13:41,228,360...41,516,461 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:12,730,284...12,739,067
Ensembl chr20:12,730,277...12,739,290 		JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:116,811,841...116,891,789
Ensembl chr 7:116,811,721...116,891,778 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:57,820,156...57,851,301
Ensembl chr 8:57,825,464...57,843,174 		JBrowse link
G Nudcd1 NudC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:77,436,035...77,480,651
Ensembl chr 7:77,436,036...77,480,575 		JBrowse link
G Nxn nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:61,607,557...61,745,807
Ensembl chr10:61,607,568...61,745,807 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human) 		RGD PMID:21270109 PMID:19384953 RGD:9491840, RGD:9491841 NCBI chr 1:116,252,026...116,581,838
Ensembl chr 1:116,251,796...116,581,838 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579 PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:148,030,349...148,037,604 		JBrowse link
G Oscp1 organic solute carrier partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:143,618,186...143,649,765
Ensembl chr 5:143,615,360...143,663,986 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:186,096,312...186,120,302 		JBrowse link
G Palm paralemmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:10,537,252...10,563,346
Ensembl chr 7:10,537,277...10,563,007 		JBrowse link
G Peli2 pellino E3 ubiquitin protein ligase family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:23,872,984...24,017,448
Ensembl chr15:23,872,984...24,014,817 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:21,699,650...21,754,325
Ensembl chr 5:21,702,987...21,711,240 		JBrowse link
G Pnma1 PNMA family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:109,513,382...109,515,167
Ensembl chr 6:109,507,773...109,515,451 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:43,339,521...43,371,807
Ensembl chr 3:43,341,108...43,371,807 		JBrowse link
G Procr protein C receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:164,714,727...164,718,994
Ensembl chr 3:164,711,636...164,718,989 		JBrowse link
G Ptch1 patched 1 disease_progression ISO
ISS 		mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1347096 PMID:8782823 PMID:8840969 PMID:9463336 PMID:9581815 More... RGD:12801453 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Ptch2 patched 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:135,808,895...135,828,986 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:103,799,473...103,951,708
Ensembl chr13:103,799,494...103,951,708 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:95,158,236...95,162,030
Ensembl chr13:95,158,183...95,162,029 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:73,458,386...73,535,367
Ensembl chr14:73,458,249...73,535,369 		JBrowse link
G Rac3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:106,501,133...106,503,569
Ensembl chr10:106,501,135...106,503,569 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... RGD:737716 NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:17,593,136...17,676,161 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:107,904,589...107,926,109
Ensembl chr 8:107,887,417...107,983,847 		JBrowse link
G Rgcc regulator of cell cycle ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:61,071,574...61,084,408
Ensembl chr15:61,071,574...61,084,408 		JBrowse link
G Rock1 Rho-associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:1,387,360...1,509,218
Ensembl chr18:1,387,360...1,509,147 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:31,984,946...32,136,878
Ensembl chr 5:31,984,855...32,132,855 		JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:66,739,794...66,778,538
Ensembl chr 8:66,741,940...66,751,099 		JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:74,465,616...74,827,455 		JBrowse link
G Sh3bp4 SH3-domain binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:97,107,877...97,186,878
Ensembl chr 9:97,107,877...97,186,878 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Shox2 SHOX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:153,524,324...153,537,571
Ensembl chr 2:153,527,571...153,537,161 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 2:61,690,828...61,723,437
Ensembl chr 2:61,690,828...61,723,437 		JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:58,115,991...58,174,256
Ensembl chr16:58,120,968...58,174,256 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:112,467,739...112,551,923
Ensembl chr 8:112,467,160...112,551,921 		JBrowse link
G Smo smoothened, frizzled class receptor disease_progression ISO DNA:missense mutations:cds:p.W535L, p.R562Q (human)
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD
RGD		 PMID:9422511 PMID:9581815 PMID:25741868 PMID:26950094 PMID:28492532 More... RGD:704355, RGD:12801453 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281 		JBrowse link
G Snora75 small nucleolar RNA, H/ACA box 75 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:94,448,219...94,448,355
Ensembl chr 9:94,448,219...94,448,355 		JBrowse link
G Sobp sine oculis binding protein homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:48,064,445...48,243,607
Ensembl chr20:48,064,445...48,243,607 		JBrowse link
G Sox18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:189,163,000...189,164,802
Ensembl chr 3:189,163,002...189,164,802 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024 		JBrowse link
G Spon2 spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:81,713,070...81,742,510
Ensembl chr14:81,731,188...81,742,609 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:59,215,007...59,479,600
Ensembl chr 7:59,215,007...59,656,213 		JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:151,915,101...151,935,162
Ensembl chr 2:151,906,149...151,935,170 		JBrowse link
G Stmn1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:151,964,308...151,970,843
Ensembl chr 5:151,964,351...151,970,842 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981 		JBrowse link
G Synj1 synaptojanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:43,678,709...43,755,526
Ensembl chr11:43,678,709...43,755,526 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgs1 trimethylguanosine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:21,322,492...21,356,017
Ensembl chr 5:21,322,492...21,356,017 		JBrowse link
G Tm4sf1 transmembrane 4 L six family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:143,606,980...143,616,176
Ensembl chr 2:143,603,271...143,616,176 		JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:82,919,324...82,956,485
Ensembl chr16:82,919,324...82,956,485 		JBrowse link
G Tmem104 transmembrane protein 104 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:100,926,219...100,984,870
Ensembl chr10:100,926,270...100,984,869 		JBrowse link
G Tmem170a transmembrane protein 170A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:56,743,221...56,756,085 JBrowse link
G Tmem176b transmembrane protein 176B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:79,097,808...79,105,263
Ensembl chr 4:79,097,808...79,105,263 		JBrowse link
G Tmem19 transmembrane protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:52,844,985...52,871,708
Ensembl chr 7:52,844,985...52,872,012 		JBrowse link
G Tmem217 transmembrane protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:7,594,223...7,620,628
Ensembl chr20:7,594,405...7,620,558 		JBrowse link
G Tp53 tumor protein p53 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 | ClinVar Annotator: match by term: PTCH2-related condition
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... RGD:8547844, RGD:8547848 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Tril TLR4 interactor with leucine-rich repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:84,252,781...84,257,626
Ensembl chr 4:84,239,028...84,260,209 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:150,527,687...150,622,857 		JBrowse link
G Ubac2 UBA domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:105,366,776...105,514,435
Ensembl chr15:105,366,697...105,514,444 		JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:4,487,316...4,782,579
Ensembl chr 1:4,489,925...4,782,356 		JBrowse link
G Vash2 vasohibin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:105,060,857...105,092,325
Ensembl chr13:105,060,857...105,092,275 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin 		RGD PMID:22213323 PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:27,245,755...27,251,214
Ensembl chr12:27,245,625...27,251,213 		JBrowse link
G Whr1 winged helix repair factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr20:4,000,216...4,009,743
Ensembl chr20:4,000,203...4,009,940 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 5:65,227,281...65,275,784
Ensembl chr 5:65,227,281...65,272,425 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:136,684,558...136,694,822 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 9:81,404,507...81,493,293
Ensembl chr 9:81,375,863...81,493,293 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 7:115,423,026...115,443,884
Ensembl chr 7:115,422,662...115,443,884 		JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha severity ISO DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma | ClinVar Annotator: match by term: TGFBR1-related disorder 		CTD
OMIM
ClinVar		 PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:9536098 More... NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:22949682 PMID:23246288 PMID:25741868 PMID:27283355 PMID:28151489 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd68 Cd68 molecule ISO protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 8:45,496,175...45,507,262
Ensembl chr 8:45,496,175...45,507,262 		JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM		 PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 More... NCBI chr10:56,277,134...56,332,229
Ensembl chr10:56,277,134...56,323,880 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Ptch1 patched 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple 		CTD
ClinVar
MouseDO
RGD		 PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:135,808,895...135,828,986 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS 		MouseDO
RGD		 PMID:9115210 RGD:12802345 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISS
ISO 		OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome 		MouseDO
ClinVar		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981 		JBrowse link
G Wbp1l WW domain binding protein 1-like ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:255,413,701...255,470,026
Ensembl chr 1:255,413,524...255,470,026 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Basal cell nevus syndrome 1 		ClinVar
OMIM
RGD		 PMID:1347096 PMID:8681379 PMID:11941477 PMID:12900905 PMID:16199547 More... RGD:407424595 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:18285427 PMID:25741868 PMID:28492532 NCBI chr 5:135,808,856...135,829,087
Ensembl chr 5:135,808,895...135,828,986 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:28492532 NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981 		JBrowse link
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:50,431,478...50,481,013
Ensembl chr19:50,431,689...50,481,012 		JBrowse link
G Ddx5 DEAD-box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr10:92,224,393...92,231,928
Ensembl chr10:92,224,395...92,231,300 		JBrowse link
G Fat1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISS MouseDO NCBI chr20:44,322,635...44,514,498
Ensembl chr20:44,322,361...44,515,479 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human) 		RGD PMID:30972880 PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr 3:126,254,633...126,274,412
Ensembl chr 3:126,254,663...126,274,418 		JBrowse link
G Pten phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      cancer 4230
        cell type cancer 2903
          carcinoma 2518
            skin carcinoma 168
              Borst-Jadassohn intraepidermal carcinoma 0
              Merkel cell carcinoma 4
              anal margin carcinoma + 0
              basal cell carcinoma + 154
              cutaneous Paget's disease + 1
              cutaneous adenocystic carcinoma 0
              cutaneous mucoepidermoid carcinoma 0
              eyelid carcinoma 0
              skin carcinoma in situ 0
              skin pilomatrix carcinoma 0
              skin squamous cell carcinoma + 12
              sweat gland carcinoma + 0
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            skin disease 2824
              Skin Neoplasms 432
                skin cancer 219
                  skin carcinoma 168
                    Borst-Jadassohn intraepidermal carcinoma 0
                    Merkel cell carcinoma 4
                    anal margin carcinoma + 0
                    basal cell carcinoma + 154
                    cutaneous Paget's disease + 1
                    cutaneous adenocystic carcinoma 0
                    cutaneous mucoepidermoid carcinoma 0
                    eyelid carcinoma 0
                    skin carcinoma in situ 0
                    skin pilomatrix carcinoma 0
                    skin squamous cell carcinoma + 12
                    sweat gland carcinoma + 0
paths to the root